@article{ad198d01e057426d9119fa2e2f02dd82,
title = "A novel missense TGFBI variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy",
keywords = "Corneal dystrophy, lattice corneal dystrophy, amyloid, TGFBI, pathogenic variant, 3125 Otorhinolaryngology, ophthalmology",
author = "Jaakkola, {Aino Maaria} and J{\"a}rventausta, {Petri J.} and Reetta-Stiina J{\"a}rvinen and Pauliina Repo and Kivel{\"a}, {Tero T.} and Turunen, {Joni A.}",
year = "2022",
doi = "10.1177/1120672121997305",
language = "English",
volume = "32",
pages = "NP61–NP66",
journal = "European Journal of Ophthalmology",
issn = "1120-6721",
publisher = "SAGE Publications Ltd",
number = "4",
}